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The syndrome of deafness-dystonia: Clinical and genetic heterogeneity.
- Published in:
- Movement Disorders, 2013, v. 28, n. 6, p. 795, doi. 10.1002/mds.25394
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- Publication type:
- Article
No evidence for rare pathological SIAE coding variants in patients with vitiligo.
- Published in:
- International Journal of Dermatology, 2013, v. 52, n. 8, p. 1019, doi. 10.1111/j.1365-4632.2011.05054.x
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- Publication type:
- Article
Clinical utility of polygenic scores for cardiometabolic disease in Arabs.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41985-1
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- Publication type:
- Article
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
- Published in:
- 2016
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- Publication type:
- journal article
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 79, doi. 10.1007/s10048-024-00744-0
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- Publication type:
- Article
Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association.
- Published in:
- Annals of Saudi Medicine, 2014, v. 34, n. 1, p. 81, doi. 10.5144/0256-4947.2014.81
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- Publication type:
- Article
Publisher Correction: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29836-2
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- Publication type:
- Article
Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-27379-0
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- Publication type:
- Article
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1410
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- Publication type:
- Article
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 24, p. 6584, doi. 10.1093/hmg/ddu384
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- Publication type:
- Article
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 13, p. 3456, doi. 10.1093/hmg/ddu054
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- Publication type:
- Article
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044
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- Publication type:
- Article
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2200, doi. 10.1093/hmg/ddt072
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- Publication type:
- Article
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 20, p. 4521, doi. 10.1093/hmg/dds294
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- Publication type:
- Article
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 8, p. 1625, doi. 10.1093/hmg/ddr039
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- Publication type:
- Article
Genomic medicine in the Middle East.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-01003-9
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- Publication type:
- Article
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 762, doi. 10.1038/ejhg.2012.254
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- Publication type:
- Article
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
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- Publication type:
- Article
A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.
- Published in:
- 2017
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- Publication type:
- journal article
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.
- Published in:
- 2018
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- Publication type:
- journal article
Reply to "an extremely severe phenotype due to WDR81 nonsense mutations".
- Published in:
- 2017
- By:
- Publication type:
- letter
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 196, doi. 10.1002/pd.6425
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- Publication type:
- Article
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 1013, doi. 10.1002/acn3.51074
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- Publication type:
- Article
Massive underrepresentation of Arabs in genomic studies of common disease.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01254-8
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- Publication type:
- Article
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1186, doi. 10.1038/ng.975
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- Publication type:
- Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 197, doi. 10.1038/ng.757
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- Publication type:
- Article
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 5, p. 543, doi. 10.1530/EJE-21-0609
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- Publication type:
- Article
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.
- Published in:
- BMC Genomics, 2016, v. 17, p. 79, doi. 10.1186/s12864-016-3093-4
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- Publication type:
- Article
Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004030
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- Publication type:
- Article
Tysnd1 Deficiency in Mice Interferes with the Peroxisomal Localization of PTS2 Enzymes, Causing Lipid Metabolic Abnormalities and Male Infertility.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003286
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- Publication type:
- Article
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects.
- Published in:
- PLoS Genetics, 2007, v. 3, n. 5, p. e80, doi. 10.1371/journal.pgen.0030080
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- Publication type:
- Article
Recurrent spontaneous oocyte activation causes female infertility.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 3, p. 675, doi. 10.1007/s10815-022-02435-x
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- Publication type:
- Article
Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 3, p. 342, doi. 10.1111/cge.14545
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- Publication type:
- Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
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- Publication type:
- Article
Further delineation of the phenotypic and metabolomic profile of ALDH1L2‐related neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 488, doi. 10.1111/cge.14479
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- Publication type:
- Article
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis.
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- Clinical Genetics, 2023, v. 103, n. 5, p. 503, doi. 10.1111/cge.14309
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- Publication type:
- Article
Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
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- Clinical Genetics, 2023, v. 103, n. 1, p. 125, doi. 10.1111/cge.14230
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- Publication type:
- Article
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesis.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 61, doi. 10.1111/cge.14128
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- Publication type:
- Article
Molecular autopsy by proxy in preconception counseling.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049
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- Publication type:
- Article
PLACK syndrome is potentially treatable with intralipids.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 572, doi. 10.1111/cge.13919
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- Publication type:
- Article
Indigenous Arabs have an intermediate frequency of a Neanderthal‐derived COVID‐19 risk haplotype compared with other world populations.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 484, doi. 10.1111/cge.13885
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- Publication type:
- Article
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1‐related condition.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 515, doi. 10.1111/cge.13821
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- Publication type:
- Article
Confirming the recessive inheritance of PERP‐related erythrokeratoderma.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699
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- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. i, doi. 10.1111/cge.13724
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- Publication type:
- Article
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 447, doi. 10.1111/cge.13676
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- Publication type:
- Article
PHENOTYPES OF RECESSIVE PEDIATRIC CATARACT IN A COHORT OF CHILDREN WITH IDENTIFIED HOMOZYGOUS GENE MUTATIONS (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS).
- Published in:
- Transactions of the American Ophthalmological Society, 2015, v. 113, p. T7-1
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- Publication type:
- Article
SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease.
- Published in:
- 2021
- By:
- Publication type:
- Letter
A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 833, doi. 10.1007/s10875-020-00800-y
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- Publication type:
- Article
A Novel Homozygous Mutation in <i>G6PC3</i> Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family.
- Published in:
- Journal of Clinical Immunology, 2013, v. 33, n. 8, p. 1403, doi. 10.1007/s10875-013-9945-7
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- Publication type:
- Article
Baffling jaundice at 5 weeks: Are you being watched, Doctor?
- Published in:
- Contemporary Pediatrics, 2004, v. 21, n. 1, p. 20
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- Publication type:
- Article